HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 218

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PPase cis Discovery rs10823500 10:72,005,190 A/G 0.37 995 0.401 0.045 1.5×10-18 1.090 5.6×10-10 0.008
PPase cis Replication rs10823500 10:72,005,190 A/G 0.23 337 0.137 0.065 0.036 1.040 0.197 0.164

 

Regional association plots

 

Boxplots and histograms for top associations

Inorganic pyrophosphatase (PPase)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Inorganic pyrophosphatase (PPase)

Target (abbrv.) PPase
Target (full name) Inorganic pyrophosphatase
Somalogic ID (Sequence ID) SL004914 (5021-13_1)
Entrez Gene Symbol PPA1
UniProt ID Q15181
UniProt Comment
  • Diphosphate + H(2)O = 2 phosphate.
Wiki Pathways
  • Hypothetical Network for Drug Addiction
Reactome
  • Cytosolic tRNA aminoacylation

All locus annotations are based on the sentinel SNP (rs10823500) and 14 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes
  • CEP57L1P1 centrosomal protein 57kDa-like 1 pseudogene 1
eQTL genes
  • SAR1A secretion associated, Ras related GTPase 1A
  • AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2
  • PPA1 pyrophosphatase (inorganic) 1
  • EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2
  • TYSND1 trypsin domain containing 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of [probe 4050452 centered at chr10:71636028] in blood 8×10-161 21829388 (PMID) GRASP2 eQTL
Gene expression of PPA1 in peripheral blood monocytes 4.4×10-57 20502693 (PMID) GRASP2 eQTL
Gene expression of SAR1A [probe 210790_s_at] in lymphoblastoid cell lines 2.2×10-26 17873877 (PMID) GRASP2 eQTL
Gene expression of SAR1A [probe 201542_at] in lymphoblastoid cell lines 2.9×10-18 17873877 (PMID) GRASP2 eQTL
Gene expression of PPA1 in CD4+ lymphocytes 6.2×10-15 20833654 (PMID) GRASP2 eQTL
Gene expression of TYSND1 in blood 1.2×10-12 21829388 (PMID) GRASP2 eQTL
PPA1 gene expression in HIV-infected CD4+ T cells 1.7×10-10 20195503 (PMID) GRASP2 eQTL
Methylation levels at chr10:71562721-71562771 [hg18 coord, probe cg26699283] in Temporal cortex 3.3×10-10 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr10:71562716-71562766 [hg18 coord, probe cg02100629] in Temporal cortex 5.9×10-10 20485568 (PMID) GRASP2 meQTL
Gene expression of SAR1A [probe 201543_s_at] in lymphoblastoid cell lines 1.8×10-8 17873877 (PMID) GRASP2 eQTL
Gene expression of SAR1A in peripheral blood monocytes 5.5×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of H2AFY2 in peripheral blood monocytes 5.3×10-7 20502693 (PMID) GRASP2 eQTL
Differential exon level expression of PPA1 [probe 3293294] in peripheral blood mononuclear cells 8.2×10-7 19222302 (PMID) GRASP2 eQTL
Gene expression of H2AFY2 in blood 2×10-6 21829388 (PMID) GRASP2 eQTL
Gene expression of PPA1 (ENSG00000180817) in dendritic cells 3.3×10-6 22233810 (PMID) GRASP2 eQTL
Gene expression of TYSND1 in blood cells in Celiac disease 6.2×10-6 19128478 (PMID) GRASP2 eQTL
Differential exon level expression of PPA1 [probe 3293304] in brain cortex 2.7×10-5 19222302 (PMID) GRASP2 eQTL
Gene expression of PPA1 [probe 217848_s_at] in prefrontal cortex 2.8×10-4 20351726 (PMID) GRASP2 eQTL